Lista de obras -

A big score for RNA.

artículo científico publicado en 2015

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

artículo científico publicado en 2010

A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.

artículo científico publicado en 2018

Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease

artículo científico publicado en 2011

Alternative splicing regulation by interaction of phosphatase PP2Cgamma with nucleic acid-binding protein YB-1

artículo científico publicado en 2007

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

scientific article published on 19 December 2004

An exonic splicing enhancer within a bidirectional coding sequence regulates alternative splicing of an antisense mRNA

artículo científico publicado en 2010

Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction

scientific article published on 01 April 2019

Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice

artículo científico publicado en 2017

Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells

artículo científico publicado en 2020

Antisense oligonucleotides delivered to the amniotic cavity in utero modulate gene expression in the postnatal mouse

artículo científico publicado en 2016

Authors' reply

Biogenesis of mammalian microRNAs by a non-canonical processing pathway

artículo científico publicado en 2012

Comprehensive splice-site analysis using comparative genomics

artículo científico publicado en 2006

Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)

artículo científico publicado en 2007

Corticosteroid sensitization drives opioid addiction

scholarly article

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

artículo científico publicado en 2005

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

artículo científico publicado en 2009

Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice

scientific article published on 05 August 2020

Drosha promotes splicing of a pre-microRNA-like alternative exon

artículo científico publicado en 2014

Dual-specificity splice sites function alternatively as 5' and 3' splice sites

artículo científico publicado en 2007

Ensemble analysis of primary microRNA structure reveals an extensive capacity to deform near the Drosha cleavage site.

artículo científico publicado en 2013

Expression and purification of splicing proteins from mammalian cells

scientific article published on 01 January 2014

Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction

scientific article published on 06 April 2020

Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction

artículo científico publicado en 2020

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

artículo científico publicado en 2017

Identification of SRSF10 as a regulator of SMN2 ISS-N1

scientific article published on 10 December 2020

Induction of antagonistic soluble decoy receptor tyrosine kinases by intronic polyA activation

artículo científico publicado en 2011

MicroRNAs are exported from malignant cells in customized particles

artículo científico publicado en 2012

Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts

artículo científico publicado en 2019

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

artículo científico publicado en 2016

Neurite Collapse and Altered ER Ca Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation

artículo científico publicado en 2018

Open reading frame correction using antisense oligonucleotides for the treatment of cystic fibrosis caused by CFTR-W1282X

scholarly article

Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis

scholarly article

Plasma components affect accuracy of circulating cancer-related microRNA quantitation

artículo científico publicado en 2011

RNA localization and co-translational interactions control RAB13 GTPase function and cell migration

scientific article published on 18 September 2020

RNA therapeutics

scholarly article

Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment

artículo científico publicado en 2017

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness

artículo científico publicado en 2013

Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide

artículo científico publicado en 2017

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

artículo científico publicado en 2013

Searching for novel biomarkers using a mouse model of CLN3-Batten disease

artículo científico publicado en 2018

Selective release of microRNA species from normal and malignant mammary epithelial cells

artículo científico publicado en 2010

Sensitive PCR-based quantitation of cell-free circulating microRNAs

artículo científico publicado en 2012

Spatial Disorientation Under Dark Conditions Across Development in an Alzheimer’s Disease Mouse Model

scholarly article

Splice-Switching Antisense Oligonucleotides Reduce LRRK2 Kinase Activity in Human LRRK2 Transgenic Mice

artículo científico publicado en 2020

Splice-switching antisense oligonucleotides as therapeutic drugs

artículo científico publicado en 2016

Targeting Alternative Splicing for Therapeutic Interventions

scholarly article

Targeting Amyloid-β Precursor Protein, APP, Splicing with Antisense Oligonucleotides Reduces Toxic Amyloid-β Production

artículo científico publicado en 2018

Targeting RNA splicing for disease therapy

artículo científico publicado en 2013

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells

artículo científico publicado en 2014

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

artículo científico publicado en 2009

Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides.

artículo científico publicado en 2016

Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease

artículo científico publicado en 2020

Lista de obras de

A big score for RNA.

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.

Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease

Alternative splicing regulation by interaction of phosphatase PP2Cgamma with nucleic acid-binding protein YB-1

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

An exonic splicing enhancer within a bidirectional coding sequence regulates alternative splicing of an antisense mRNA

Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction

Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice

Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells

Antisense oligonucleotides delivered to the amniotic cavity in utero modulate gene expression in the postnatal mouse

Authors' reply

Biogenesis of mammalian microRNAs by a non-canonical processing pathway

Comprehensive splice-site analysis using comparative genomics

Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)

Corticosteroid sensitization drives opioid addiction

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice

Drosha promotes splicing of a pre-microRNA-like alternative exon

Dual-specificity splice sites function alternatively as 5' and 3' splice sites

Ensemble analysis of primary microRNA structure reveals an extensive capacity to deform near the Drosha cleavage site.

Expression and purification of splicing proteins from mammalian cells

Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction

Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

Identification of SRSF10 as a regulator of SMN2 ISS-N1

Induction of antagonistic soluble decoy receptor tyrosine kinases by intronic polyA activation

MicroRNAs are exported from malignant cells in customized particles

Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

Neurite Collapse and Altered ER Ca Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation

Open reading frame correction using antisense oligonucleotides for the treatment of cystic fibrosis caused by CFTR-W1282X

Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis

Plasma components affect accuracy of circulating cancer-related microRNA quantitation

RNA localization and co-translational interactions control RAB13 GTPase function and cell migration

RNA therapeutics

Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness

Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

Searching for novel biomarkers using a mouse model of CLN3-Batten disease

Selective release of microRNA species from normal and malignant mammary epithelial cells

Sensitive PCR-based quantitation of cell-free circulating microRNAs

Spatial Disorientation Under Dark Conditions Across Development in an Alzheimer’s Disease Mouse Model

Splice-Switching Antisense Oligonucleotides Reduce LRRK2 Kinase Activity in Human LRRK2 Transgenic Mice

Splice-switching antisense oligonucleotides as therapeutic drugs

Targeting Alternative Splicing for Therapeutic Interventions

Targeting Amyloid-β Precursor Protein, APP, Splicing with Antisense Oligonucleotides Reduces Toxic Amyloid-β Production

Targeting RNA splicing for disease therapy

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides.

Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease